Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson’s disease and increase susceptibility to dementia in a Flanders-Belgian cohort
详细信息 查看全文
- 作者：David Crosiersa ; b ; c ; david.crosiers@uza.be" class="auth_mail" title="E-mail the corresponding author ; david.crosiers@molgen.vib-ua.be" class="auth_mail" title="E-mail the corresponding author ; Aline Verstraetena ; b ; Eline Wautersa ; b ; Sebastiaan Engelborghsa ; b ; d ; Karin Peetersa ; b ; Maria Mattheijssensa ; b ; Peter P. De Deyna ; b ; d ; Jessie Theunsa ; b ; Christine Van Broeckhovena ; b ; Patrick Crasa ; b ; c
- 关键词：Parkinson&rsquo ; s disease ; Glucocerebrosidase ; GBA ; Genotype-phenotype correlation
- 刊名：Neuroscience Letters
- 出版年：2016
- 出版时间：26 August 2016
- 年：2016
- 卷：629
- 期：Complete
- 页码：160-164
- 全文大小：711 K
文摘
- •
GBA mutations are a strong genetic risk factor for Parkinson disease (PD).
- •
A heterozygous GBA mutation was identified in 4.5% of PD patients.
- •
More severe PD motor symptoms are observed in GBA mutation carriers.
- •
GBA mutation status is an independent predictor for dementia in PD patients.